Incidental Mutation 'R9785:Selenon'
ID |
734279 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Selenon
|
Ensembl Gene |
ENSMUSG00000050989 |
Gene Name |
selenoprotein N |
Synonyms |
Sepn1, 1110019I12Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9785 (G1)
|
Quality Score |
207.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
134265203-134279477 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 134270374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 326
(G326D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060026
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060435]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060435
AA Change: G326D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060026 Gene: ENSMUSG00000050989 AA Change: G326D
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
65 |
N/A |
INTRINSIC |
SCOP:d1k94a_
|
76 |
113 |
4e-3 |
SMART |
low complexity region
|
160 |
179 |
N/A |
INTRINSIC |
low complexity region
|
526 |
532 |
N/A |
INTRINSIC |
low complexity region
|
544 |
555 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in the orthologous gene in human are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. Knockout mice deleted for this gene exhibit abnormal lung development. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. [provided by RefSeq, Dec 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit satellite cell loss and impaired muscle regeneration. Mice homozygous for a different knock-out allele exhibit subtle core lesions in skeletal muscle after induced oxidative stress and abnormal lung development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
T |
C |
10: 61,049,427 (GRCm39) |
E634G |
possibly damaging |
Het |
Adgre1 |
T |
C |
17: 57,785,930 (GRCm39) |
L892P |
probably damaging |
Het |
Adgrl1 |
A |
T |
8: 84,665,168 (GRCm39) |
N1285I |
probably damaging |
Het |
Alpk1 |
A |
T |
3: 127,473,594 (GRCm39) |
M803K |
probably benign |
Het |
Armt1 |
T |
A |
10: 4,389,606 (GRCm39) |
W88R |
probably damaging |
Het |
Cacna1d |
A |
T |
14: 29,824,300 (GRCm39) |
|
probably null |
Het |
Cd27 |
G |
A |
6: 125,213,945 (GRCm39) |
|
probably benign |
Het |
Cebpb |
A |
G |
2: 167,531,663 (GRCm39) |
D241G |
probably damaging |
Het |
Clec3b |
T |
A |
9: 122,985,997 (GRCm39) |
W132R |
probably damaging |
Het |
Cracd |
A |
T |
5: 77,015,028 (GRCm39) |
S1185C |
unknown |
Het |
Csn2 |
A |
T |
5: 87,842,502 (GRCm39) |
V175D |
possibly damaging |
Het |
Dnm1 |
A |
T |
2: 32,223,089 (GRCm39) |
C442S |
possibly damaging |
Het |
Dstyk |
C |
T |
1: 132,381,038 (GRCm39) |
T511I |
probably damaging |
Het |
Gabra5 |
C |
T |
7: 57,140,584 (GRCm39) |
V38I |
probably benign |
Het |
Gjd2 |
A |
T |
2: 113,841,747 (GRCm39) |
Y243* |
probably null |
Het |
Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
Hrnr |
G |
A |
3: 93,238,861 (GRCm39) |
R3033H |
unknown |
Het |
Ivd |
G |
T |
2: 118,710,970 (GRCm39) |
R393L |
probably damaging |
Het |
Jam2 |
T |
C |
16: 84,571,397 (GRCm39) |
L8P |
unknown |
Het |
Klhdc7b |
G |
T |
15: 89,272,621 (GRCm39) |
D510Y |
probably damaging |
Het |
Lgals8 |
A |
T |
13: 12,462,051 (GRCm39) |
F260I |
probably damaging |
Het |
Lrrd1 |
T |
C |
5: 3,908,708 (GRCm39) |
I660T |
probably damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Npc1l1 |
C |
T |
11: 6,180,090 (GRCm39) |
A12T |
unknown |
Het |
Or10j7 |
C |
T |
1: 173,011,458 (GRCm39) |
R181H |
probably benign |
Het |
Or5d47 |
T |
C |
2: 87,804,245 (GRCm39) |
T255A |
possibly damaging |
Het |
Rprm |
C |
T |
2: 53,975,238 (GRCm39) |
V27M |
probably benign |
Het |
Scg3 |
G |
T |
9: 75,589,322 (GRCm39) |
D110E |
probably damaging |
Het |
Sh3gl2 |
T |
A |
4: 85,273,618 (GRCm39) |
Y57N |
probably damaging |
Het |
Skint6 |
A |
T |
4: 112,740,884 (GRCm39) |
L807M |
possibly damaging |
Het |
Srl |
A |
G |
16: 4,314,718 (GRCm39) |
V308A |
probably benign |
Het |
Tcf7 |
T |
A |
11: 52,173,773 (GRCm39) |
|
probably benign |
Het |
Trdv2-2 |
A |
T |
14: 54,198,489 (GRCm39) |
T14S |
probably benign |
Het |
Usf3 |
A |
G |
16: 44,041,970 (GRCm39) |
E2150G |
probably benign |
Het |
Vmn2r104 |
G |
A |
17: 20,268,409 (GRCm39) |
T20I |
probably benign |
Het |
Wnt1 |
G |
T |
15: 98,688,752 (GRCm39) |
V38L |
probably benign |
Het |
Zbtb17 |
C |
T |
4: 141,194,271 (GRCm39) |
T740M |
possibly damaging |
Het |
Zdhhc6 |
T |
C |
19: 55,300,203 (GRCm39) |
M125V |
probably damaging |
Het |
Zfp202 |
A |
G |
9: 40,120,233 (GRCm39) |
M225V |
probably benign |
Het |
Zfp592 |
G |
T |
7: 80,673,245 (GRCm39) |
V70F |
probably damaging |
Het |
|
Other mutations in Selenon |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00946:Selenon
|
APN |
4 |
134,267,037 (GRCm39) |
unclassified |
probably benign |
|
IGL02832:Selenon
|
APN |
4 |
134,268,219 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03015:Selenon
|
APN |
4 |
134,272,829 (GRCm39) |
missense |
probably benign |
0.43 |
G1Funyon:Selenon
|
UTSW |
4 |
134,278,725 (GRCm39) |
splice site |
probably benign |
|
I0000:Selenon
|
UTSW |
4 |
134,270,012 (GRCm39) |
splice site |
probably benign |
|
R1400:Selenon
|
UTSW |
4 |
134,278,829 (GRCm39) |
missense |
probably benign |
0.00 |
R1436:Selenon
|
UTSW |
4 |
134,267,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R1932:Selenon
|
UTSW |
4 |
134,271,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R2886:Selenon
|
UTSW |
4 |
134,270,380 (GRCm39) |
missense |
probably null |
1.00 |
R3884:Selenon
|
UTSW |
4 |
134,267,081 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4647:Selenon
|
UTSW |
4 |
134,272,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R4721:Selenon
|
UTSW |
4 |
134,270,387 (GRCm39) |
nonsense |
probably null |
|
R5091:Selenon
|
UTSW |
4 |
134,275,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R5412:Selenon
|
UTSW |
4 |
134,269,749 (GRCm39) |
missense |
probably benign |
0.00 |
R5553:Selenon
|
UTSW |
4 |
134,268,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R7048:Selenon
|
UTSW |
4 |
134,270,154 (GRCm39) |
missense |
probably benign |
0.04 |
R7222:Selenon
|
UTSW |
4 |
134,275,288 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7470:Selenon
|
UTSW |
4 |
134,267,061 (GRCm39) |
missense |
probably benign |
0.29 |
R8301:Selenon
|
UTSW |
4 |
134,278,725 (GRCm39) |
splice site |
probably benign |
|
R8452:Selenon
|
UTSW |
4 |
134,275,398 (GRCm39) |
splice site |
probably null |
|
R8753:Selenon
|
UTSW |
4 |
134,275,330 (GRCm39) |
missense |
probably benign |
0.21 |
R8921:Selenon
|
UTSW |
4 |
134,268,153 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9570:Selenon
|
UTSW |
4 |
134,270,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTCAATCATGTTGCCGTC -3'
(R):5'- CAGGCTCTGCTGTCAAACTC -3'
Sequencing Primer
(F):5'- CTCATCTAGGATCACAGAGGGC -3'
(R):5'- TGCTGTCAAACTCCCTGTG -3'
|
Posted On |
2022-11-14 |